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Epilepsy and premature death

Only the Scandinavians do beautiful cohort studies. A total of 245 children with epilepsy were followed for 40 years from 1964. Sixty (24%) died, including half of those with chronic refractory epilepsy. The overall adjusted mortality was three times higher than expected. Children with a demonstrable symptomatic cause were three times more likely to die than those with idiopathic or cryptogenic epilepsy. Six deaths were drownings. Sudden unexplained death in epilepsy (SUDEP) was suspected in 18, giving a cumulative SUDEP risk over 40 years of a sobering 7%.

Migraines: dots and clots

Migraine with aura is associated with white matter hyperintensities and subclinical infarction. A large study (n=780) showed that any severe headache increases white matter hyperintensity load (OR 2.0 (95% CI 1.3 to 3.1); p>0.002). So are migraines not so unusual after all? Only migranous headaches (in this study) were linked with brain infarctions (OR 3.4 (95% CI 1.2 to 9.3)) and, happily, MRI visible lesions were not associated with cognitive impairment. These results make it now even harder to request MRI ‘to rule out underlying structural pathology’.

Encephalitis: known knowns and known unknowns

Medical students are expected to be able to list obscure causes of encephalitis. In practice, the underlying aetiology is often not found, with 85% of UK cases remaining ‘cause unknown’. An English 2 year population based prospective study identified 203 encephalitis cases; 85% were in immunocompetent patients. After extensive investigations, the authors found infective causes in 42% (19% with herpes simplex virus) and immune mediated causes in 21% (11% with acute demyelinating encephalomyelitis). Overall, 24 died (12%) but mortality in those with Mycobacterium tuberculosis was 30% and in those with autoimmune causes was 19%. It all confirms what we have long known—early treatment is critical but even extensive testing often still leaves diagnostic certainty.

Blistering brains

At first glance, bullous pemphigoid has little relevance to a neurology clinic. However, a recent case control study went some way to confirming a link between this IgG mediated autoimmune blistering skin condition and several neurological disorders. Patients with bullous pemphigoid have an increased risk of neurological diseases in general (OR 6.2, adjusted for sex and age), and of cerebrovascular disease and dementia in particular. However, pemphigoid mostly follows the neurological disease onset. Thus the link remains an enigmatic clue to aetiology, rather than a diagnostic aid.

Pants on fire

Unscrupulous alternative therapists may invite accusations of talking from the heart of their bottom—an apt description of the ‘discovery’ of the inverted homunculus on the buttocks. This deliberate falsehood from John McLachlan was used to explode the lack of robust critical appraisal by, first, some in the alternative medicine community and, second, by some who organise medical conferences. Professor McLachlan evoked their obscuring linguistic style: for example, ‘integrative medicine’ as the new synonym for complementary medicine. Ironically, a buttock massage undoubtedly has powerful placebo effects, which might easily outshine some ‘high street’ therapies.

On the shoulders of giants

In 1761, a boy born in Northern Ireland grew to a height of 7 feet and 7 inches (231 cm). After he died at 22 years, the surgeon John Hunter acquired his skeleton for the Hunterian Museum in London. In 1909, Harvey Cushing examined the skull, reported an enlarged pituitary fossa and diagnosed a probable pituitary adenoma. DNA now extracted from the patient's teeth has shown a mutation known to predispose to childhood onset pituitary adenomas (c910C→T, in the gene encoding for aryl-hydrocarbon interacting protein (AIP)). The same mutation was also identified in four families currently living in Northern Ireland, suggesting a single common ancestor 57 generations ago.

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